Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31594 | 95005;95006;95007 | chr2:178546648;178546647;178546646 | chr2:179411375;179411374;179411373 |
| N2AB | 29953 | 90082;90083;90084 | chr2:178546648;178546647;178546646 | chr2:179411375;179411374;179411373 |
| N2A | 29026 | 87301;87302;87303 | chr2:178546648;178546647;178546646 | chr2:179411375;179411374;179411373 |
| N2B | 22529 | 67810;67811;67812 | chr2:178546648;178546647;178546646 | chr2:179411375;179411374;179411373 |
| Novex-1 | 22654 | 68185;68186;68187 | chr2:178546648;178546647;178546646 | chr2:179411375;179411374;179411373 |
| Novex-2 | 22721 | 68386;68387;68388 | chr2:178546648;178546647;178546646 | chr2:179411375;179411374;179411373 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1697300791  |
None | 0.999 | N | 0.695 | 0.321 | 0.380223377699 | gnomAD-4.0.0 | 3.18357E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7188E-06 | 0 | 0 |
| S/I | rs1392690569 |
0.313 | 1.0 | D | 0.767 | 0.52 | 0.693164089083 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/I | rs1392690569 |
0.313 | 1.0 | D | 0.767 | 0.52 | 0.693164089083 | gnomAD-4.0.0 | 6.84333E-07 | None | None | None | None | N | None | 0 | 2.23684E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs763418453 |
-0.705 | 1.0 | D | 0.728 | 0.58 | 0.486352402194 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67654E-04 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs763418453 |
-0.705 | 1.0 | D | 0.728 | 0.58 | 0.486352402194 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04312E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.999 | D | 0.67 | 0.442 | 0.455173453901 | gnomAD-4.0.0 | 1.36867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79923E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6342 | likely_pathogenic | 0.5882 | pathogenic | -0.764 | Destabilizing | 0.998 | D | 0.609 | neutral | None | None | None | None | N |
| S/C | 0.8349 | likely_pathogenic | 0.7926 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.570697557 | None | None | N |
| S/D | 0.9968 | likely_pathogenic | 0.9961 | pathogenic | -0.25 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| S/E | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -0.242 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/F | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| S/G | 0.2956 | likely_benign | 0.287 | benign | -1.029 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | N | 0.49427393 | None | None | N |
| S/H | 0.9942 | likely_pathogenic | 0.9934 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/I | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.570444068 | None | None | N |
| S/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.748 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| S/L | 0.981 | likely_pathogenic | 0.9755 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/M | 0.992 | likely_pathogenic | 0.9903 | pathogenic | 0.051 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/N | 0.9841 | likely_pathogenic | 0.9793 | pathogenic | -0.698 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.569937089 | None | None | N |
| S/P | 0.9947 | likely_pathogenic | 0.9912 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/Q | 0.9959 | likely_pathogenic | 0.9953 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/R | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.558669689 | None | None | N |
| S/T | 0.8413 | likely_pathogenic | 0.7888 | pathogenic | -0.739 | Destabilizing | 0.999 | D | 0.67 | neutral | D | 0.556388283 | None | None | N |
| S/V | 0.9945 | likely_pathogenic | 0.9927 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| S/W | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| S/Y | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.